Delhi Journal of Ophthalmology

Ophthalmic Features of Schopf-Schulz-Passarge Syndrome

Manpreet Singh, Manpreet Kaur, Aditi Mehta Grewal, Zoramthara Zadeng, Pankaj Gupta
Department of Ophthalmology, Advanced Eye Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India

Corresponding Author:

Manpreet Singh MS, DNB, FAICO
Department of Ophthalmology,
Advanced Eye Centre,
Post Graduate Institute of Medical Education and Research,
Chandigarh, India
Email id: drmanu83@gmail.com

Received: 13-JUL-2019

Accepted: 27-AUG-2019

Published Online: 27-DEC-2019

DOI:http://dx.doi.org/10.7869/djo.487

Abstract
Schopf–Schulz–Passarge syndrome (SSPS) is an ectodermal dysplasia of autosomal recessive inheritance. The SSPS involves two or more of the following structures: sweat glands, hair, teeth, nails, and other ectodermal structures. The features of this syndrome constitute multiple periocular and eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypodontia, hypotrichosis, and nail dystrophy. We present pictorial description of the SSPS.

Keywords :Eccrine hidrocystoma of eyelid, eyelid translucent cysts, apocrine hidrocystomas, Schopf-Schulz-Passarge syndrome

A 55-year-old female presented with painless, slowly progressive, multiple swellings over both upper eyelids of 3 years duration. The examination revealed variable sized (1.5 to 7 mm), translucent cystic lesions on both upper eyelids (eccrine hidrocystomas) (Figure 1a). The overlying skin was smooth, stretched with no telangiectasias or eyelash loss. The lateral views revealed three larger, non-translucent periorbital cysts (asterisk) with the thicker overlying skin, suggestive of apocrine hidrocystomas (Figure 1b,c). The rest of the ophthalmic examination was within normal limits. Her systemic examination by the dermatologist revealed keratoderma of palms & soles and mild hypoplasia of nails (Figure 2a,b). A clinical diagnosis of Schopf-Schulz-Passarge syndrome was kept, and surgical excision of cysts was advised for cosmetic rehabilitation.




Discussion

Schopf–Schulz–Passarge syndrome (SSPS) is a rare type of ectodermal dysplasia having an autosomal recessive inheritance.1 Ectodermal dysplasias characterize developmental abnormalities of =2 structures hairs, teeth, nails, sweat glands, etc. Multiple periocular/eyelid apocrine hidrocystomas, palmo-plantar keratoderma (Figure 2), hypodontia, hypotrichosis, and nail dystrophy; are the features of SSPS.1,2 Genetic studies showed mutations in WNT10A gene located at 2q35, causing abnormal cellcell interactions via principal signaling molecule during embryogenesis.3


Declaration

Proper informed consent was obtained from the patient regarding the use of her clinical photographs for academic publication purposes.

References
  1.  Schopf E, Schulz HJ, Passarge E. Syndrome of cystic eyelids, palmo-plantar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait. Birth Defects Orig Artic Ser 1971;7:219-21.
  2. Hampton PJ, Angus B, Carmichael AJ. A case of Schöpf–Schulz– Passarge syndrome. Clin Exp Dermatol 2005;30:528-30.
  3. Castori M, Ruggieri S, Giannetti L, Annessi G, Zambruno G. Schopf-Schulz-Passarge syndrome: Further delineation of the phenotype and genetic considerations. Acta Derm Venereol 2008;88:607-12.

CITE THIS ARTICLE

Singh M, Kaur M, Grewal AM, Zadeng Z, Gupta POphthalmic Features of Schopf-Schulz-Passarge Syndrome.DJO 2019;30:68-69

CITE THIS URL

Singh M, Kaur M, Grewal AM, Zadeng Z, Gupta POphthalmic Features of Schopf-Schulz-Passarge Syndrome.DJO [serial online] 2019[cited 2020 Jan 25];30:68-69. Available from: http://www.djo.org.in/articles/30/1/Ophthalmic-Features-of-Schopf-Schulz-Passarge-Syndrome.html